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Such genetic disorders as Treacher Collins syndrome and hemifacial microsomia affect between one in 3,500 and one in 10,000 children.

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Do children ever die from Treacher Collins syndrome?

ditto


How can treacher Collins syndrome be passed on?

Treacher Collins syndrome is primarily caused by mutations in the TCOF1 gene, which can be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutated gene to each of their children. In some cases, the syndrome can also result from new mutations that occur spontaneously, meaning it may not always be inherited from a parent. If a child inherits the mutated gene, they may exhibit varying degrees of the syndrome's characteristic features.


How is Treacher Collins syndrome detected?

You can detect Treacher Collins syndrome by looking for the following characteristics:Facial cleft (Tessier 6-7-8 cleft)Hypoplasia of cheeks and mandible bilaterallyColobomas (or congenital scar) of the eyelidsDownward-sloping palpebral fissuresPoorly developed supraorbital rims and cheeksReceding chinMalformation of the earSeverity of Treacher Collins syndrome can vary, but problems faced by children with Treacher Collins syndrome can be quite complicated and require the attention of a professional with experience with these types of patients.


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